Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnos...

por Feresin, Agnese, Stampalija, Tamara, Cappellani, Stefania, Bussani, Rossana, Faletra, Flavio, Murru, Flora, Ulivi, Sheila, Suergiu, Sarah, Savarese, Pasquale, Pedicini, Antonio, Policicchio, Margherita, Ruggiero, Raffaella, Bosio, Barbara, Savarese, Giovanni, Ardisia, Carmela
Publicado 2022

Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis

por Persico, Ilaria, Feresin, Agnese, Faleschini, Michela, Fontana, Giorgia, Sirchia, Fabio, Faletra, Flavio, La Bianca, Martina, Suergiu, Sarah, Morgutti, Marcello, Maschio, Massimo, D'Adamo, Adamo Pio, Raraigh, Karen S., Savoia, Anna, Bottega, Roberta
Publicado 2022